Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

TANK-binding kinase 1 (TBK1) has been recently identified as a risk gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the contribution of TBK1 mutations to Chinese ALS patients. We sequenced the coding regions of TBK1 in a cohort of Chinese ALS patients, including 271 sporadic ALS patients and 23 familial ALS patients. Two potentially pathogenic mutations, L62P and I334T, were identified in two independent sporadic ALS patients, accounting for 0.7% of total ALS cases. Both mutations were absent from our 384 healthy controls and public single nucleotide polymorphisms databases. In conclusion, we propose that TBK1 is not a frequent causal gene in Chinese ALS patients.